A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1127380



Internal ID19250828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:50169550..50169617hg38UCSC Ensembl
Outerchr14:50636268..50636335hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3955059
SamplesKWS1
Known GenesSOS2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1127380
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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